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Gene: GJA8 & Disease: Cataract-Microcornea Syndrome, 101 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
845873	GJA8	c.134G>T	p.Trp45Leu (p.W45L)	NM_005267.5 M	SNV	P	2 +	10
217335	GJA8	c.134G>C	p.Trp45Ser (p.W45S)	NM_005267.5 M	SNV	P	2 +	8
8727	GJA8	c.139G>A	p.Asp47Asn (p.D47N)	NM_005267.5 M	SNV	P	2 +	7
8721	GJA8	c.262C>T	p.Pro88Ser (p.P88S)	NM_005267.5 M	SNV	P	2 +	6
1454428	GJA8	c.226C>T	p.Arg76Cys (p.R76C)	NM_005267.5 M	SNV	P	2 +	6
650108	GJA8	c.262C>G	p.Pro88Ala (p.P88A)	NM_005267.5 M	SNV	P	2 +	6
1684590	GJA8	c.263C>T	p.Pro88Leu (p.P88L)	NM_005267.5 M	SNV	P	2 +	5
1704073	GJA8	c.130G>A	p.Val44Met (p.V44M)	NM_005267.5 M	SNV	P	2 +	5
8723	GJA8	c.741T>G	p.Ile247Met (p.I247M)	NM_005267.5 M	SNV	P	2 +	4
2103996	GJA8	c.137G>A	p.Gly46Glu (p.G46E)	NM_005267.5 M	SNV	LP	2 +	4
1410982	GJA8	c.135G>T	p.Trp45Cys (p.W45C)	NM_005267.5 M	SNV	P	2 +	4
2581012	GJA8	c.592C>T	p.Arg198Trp (p.R198W)	NM_005267.5 M	SNV	P	2 +	4
8726	GJA8	c.593G>A	p.Arg198Gln (p.R198Q)	NM_005267.5 M	SNV	P	2 +	3
217323	GJA8	c.658A>G	p.Asn220Asp (p.N220D)	NM_005267.5 M	SNV	LB	3 +	3
217355	GJA8	c.151G>A	p.Asp51Asn (p.D51N)	NM_005267.5 M	SNV	P	2 +	3
521584	GJA8	c.136G>A	p.Gly46Arg (p.G46R)	NM_005267.5 M	SNV	P	2 +	3
1992628	GJA8	c.148T>C	p.Ser50Pro (p.S50P)	NM_005267.5 M	SNV	VUS	2 +	3
1684591	GJA8	c.263C>A	p.Pro88Gln (p.P88Q)	NM_005267.5 M	SNV	LP	2 +	2
842078	GJA8	c.176C>T	p.Pro59Leu (p.P59L)	NM_005267.5 M	SNV	P	2 +	2
1484682	GJA8	c.143A>G	p.Glu48Gly (p.E48G)	NM_005267.5 M	SNV	P	2 +	2

101 Results, 20 per Page

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